Q49* (p.Gln49Ter) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
Q49* (p.Gln49Ter) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
Q49* (p.Gln49Ter) variant details
- p.Gln49Ter
- rs587776765
- ClinGen CA122074
- ClinVar RCV000013069
- ClinVar RCV005025048
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.271
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.05
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1. (PMID 9497253)